Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour

Immunology

Volumn 113, Issue 1, 2004, Pages 65-79

  Todd, Ian ^a,b   Radford, Paul M ^a   Draper Morgan, Kelly Ann ^a   Mcintosh, Richard ^a   Bainbridge, Susan ^a   Dickinson, Peter ^a   Jamhawi, Lama ^a   Sansaridis, Marios ^a   Huggins, Mary L ^a   Tighe, Patrick J ^a   Powell, Richard J ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

Autoinflammatory syndrome; Mutation; Periodic fever syndrome; Tumour necrosis factor: tumour necrosis factor receptor, tumour necrosis factor receptor associated periodic syndrome

Indexed keywords

CHAPERONE; INTERLEUKIN 8; TUMOR NECROSIS FACTOR RECEPTOR 1; UBIQUITIN;

APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; CELL DEATH; CELL LINE; CELL SURFACE; CONTROLLED STUDY; EMBRYO; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MOLECULAR DYNAMICS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN SYNTHESIS; SIGNAL TRANSDUCTION; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ANTIGENS, CD; APOPTOSIS; CELL LINE; CELL MEMBRANE; CYTOKINES; CYTOPLASM; FAMILIAL MEDITERRANEAN FEVER; HUMANS; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RECOMBINANT FUSION PROTEINS; SIGNAL TRANSDUCTION; TRANSFECTION; TUMOR NECROSIS FACTOR-ALPHA;

EID: 4444320270     PISSN: 00192805     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2567.2004.01942.x     Document Type: Article

References (49)

1. Bazzoni F, Beutler B. The tumor necrosis factor ligand and receptor families. N Engl J Med 1996; 334:1717-25.
2. Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian Fever. Quart J Med 1982; 51:469-80.
3. McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of Familial Hibernian Fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997; 72: 806-17.
4. McDermott MF, Aksentijevich I, Galon J et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFRSF1A, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97:133-44.
5. Hull KM, Drewe E, Aksentijevich I, Dean IJ, Singh H, Powell RJ, Kastner DL. TNF receptor-associated periodic syndrome: emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81:349-68.
6. MacEwan DJ. TNF receptor subtype signalling: differences and cellular consequences. Cell Signalling 2002; 14:477-92.
7. Chan FKM, Chun HJ, Zheng L, Siegel R, Bui KL, Lenardo MJ. A domain in TNF receptors that mediates ligand independent receptor assembly and signalling. Science 2000; 288:2351-4.
8. Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld H-J, Broger C, Loetscher H, Lesslauer W. Crystal structure of the soluble human 55kD TNF receptor-TNFβ complex: implications for TNF receptor activation. Cell 1993; 73:431-55.
9. Aksentijevich I, Galon J, Soares M et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001; 69:301-14.
10. Dode C, Papo T, Fieschi C et al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a french family. Arthitis Rheum 2000; 43:1535-42.
11. Jadoul M, Dode C, Cosyns J-P, Abramowicz D, Georges B, Delpech M, Pirson Y. Autosomal-dominant periodic fever with AA amyloidosis: novel mutation in tumor necrosis factor receptor 1 gene. Kidney Int 2001; 59:1677-82.
12. Simon A, Dode C, van der Meer JWM, Drenth JPH. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene. Am J Med 2001; 110:313-6.
13. Simon A, van Deuren M, Tighe PJ, van der Meer JWM, Drenth JPH. Genetic analysis as a valuable key to diagnosis and treatment of periodic fever. Arch Intern Med 2001; 161:2491-3.
14. Rosen Wolff A, Kreth HW, Hofmann S et al. Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 2001; 67:105-9.
15. Aganna E, Zeharia A, Hitman GA et al. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46:245-9.
16. Nevala H, Karenko L, Stjernberg S et al. A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum 2002; 46:1061-6.
17. Dode C, Andre M, Bienvenu T et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46:2181-8.
18. Dode C, Hazenberg BP, Pecheux C et al. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002; 17:1212-7.
19. Stjernberg S, Pettersson T, Karenko L, Pitkanen S, Peterson P, Ranki A. A novel mutation in exon 3 of the TNFRSF1A gene in a Finnish family with TRAPS. Clin Exp Rheumatol 2002; 20 (Suppl. 26):S-72.
20. Frenkel J, Ploos van Amstel JK, Smith B, Lasham C, Gaiser N, Rijkers GT. Non-cysteine TNFRSF1A mutation in Dutch family with periodic fever. Clin Exp Rheumatol 2002; 20 (Suppl. 26):S-73.
21. Obici L, Palladini G, Marciano S, Massa M, Zoppo M, Merlini G. Molecular characterisation of tumor necrosis factor receptor associated periodic syndrome (TRAPS) in Italy: identification of novel and recurrent mutations and evidence for a high frequency of the R92Q allele in the Italian population. Clin Exp Rheumatol 2002; 20 (Suppl. 26):S-76.
22. Aganna E, Hammond L, Hawkins PN et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48:2632-44.
23. Kriegel MA, Huffmeier U, Scherb E, Scheidig C, Geiler T, Kalden JR, Reis A, Lorenz H-M. Tumour necrosis factor receptor-associated periodic syndrome characterised by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum 2003; 48:2386-8.
24. Kopito RR, Ron D. Conformational disease. Nat Cell Biol 2000; 2:E207-9.
25. 1-antitrypsin deficiency - a model for conformational diseases. N Engl J Med 2002; 346: 45-53.
26. McFarlane SM, Pashmi G, Connell MC, Littlejohn AF, Tucker SJ, Vandenabeele P, MacEwan DJ. Differential activation of nuclear factor-kB by tumour necrosis factor receptor subtypes. TNFR1 predominates whereas TNFR2 activates transcription poorly. FEBS Lett 2002; 515:119-26.
27. Waterhouse NJ, Finucane DM, Green DR et al. Calpain activation is upstream of caspases in radiation-induced apoptosis. Cell Death Differ 1998; 5:1051-61.
28. Boldin MP, Mett IL, Varfolomeev EE, Chumakov I, Shemer-Avni Y, Camonis JH, Wallach D. Self association of the 'Death Domains' of the p55 tumour necrosis factor (TNF) receptor and Fas/APO1 prompts signalling for TNF and Fas/Apo1 effects. J Biol Chem 1995; 270:387-91.
29. Gaeta ML, Johnson DR, Kluger MS, Pober JS. The death domain of tumor necrosis factor receptor 1 is necessary but not sufficient for Golgi retention of the receptor and mediates receptor desensitization. Lab Invest 2000; 80:1185-94.
30. Johnston JA, Ward CL, Kopito RR. Aggresomes: a cellular response to misfolded proteins. J Cell Biol 1998; 143:1883-98.
31. Garcia-Mata R, Bebok Z, Sorscher EJ, Sztul ES. Characterization and dynamics of aggresome formation by a cytosolic GFP-chimera. J Cell Biol 1999; 146:1239-54.
32. 1- antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Am J Physiol Gastrointest Liver Physiol 2000; 279:G961-74.
33. Ravikumar B, Duden R, Rubinsztein DC. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Human Mol Genet 2002; 11:1107-17.
34. Chan FK-M, Siegel RM, Lenardo MJ. Signaling by the TNF receptor superfamily and T cell homeostasis. Immunity 2000; 13:419-22.
35. Bradley JR, Thiru S, Pober JS. Disparate localization of 55-kd and 75-kd tumor necrosis factor receptors in human endothelial cells. Am J Pathol 1995; 146:27-32.
36. Jones SR, Ledgerwood EC, Prins JB, Galbraith J, Johnson DR, Pober JS, Bradley JR. TNF recruits TRADD to the plasma membrane but not the trans-Golgi network, the principal subcellular location of TNF-R1. J Immunol 1999; 162:1042-8.
37. Storey H, Stewart A, Vandenabeele P, Luzio JP. The p55 tumour necrosis factor receptor TNFR1 contains a trans-Golgi network localization signal in the C-terminal region of its cytoplasmic tail. Biochem J 2002; 366:15-22.
38. Sanders CR, Nagy JK. Misfolding of membrane proteins in health and disease: the lady or the tiger? Curr Opin Struct Biol 2000; 10:438-42.
39. Wang J, Al-Lamki RS, Zhang H, Kirkiles-Smith N, Gaeta ML, Thiru S, Pober JS, Bradley JR. Histamine antagonizes tumor necrosis factor (TNF) signalling by stimulating TNF receptor shedding from the cell surface and Golgi storage pool. J Biol Chem 2003; 278:21751-60.
40. 1-antitrypsin characterised by prolonged retention in the endoplasmic reticulum. J Biol Chem 2001; 276:33893-8.
41. Jorgensen MM, Jensen ON, HoLst HU, Hansen JJ, Corydon TJ, Bross P, Bolund L, Gregersen N. Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum. J Biol Chem 2000; 275:33861-8.
42. Kjaer S, Ibanez CF. Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET. Hum MoL Genet 2003; 12:2133-44.
43. Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP, Kastner DL. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003; 11:591-604.
44. Houten SM, Frenkel J, Rijkers GT, Wanders RJA, Kuis W, Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum MoL Genet 2002; 11:3115-24.
45. Pfeffer K, Matsuyama T, Kundig TM et al. Mice deficient for the 55kD tumor necrosis factor receptor are resistant to endotoxic shock, yet succumb to L. monocytogenes infection. Cell 1993; 73:457-67.
46. Peschon JJ, Torrance DS, Stocking KL et al. TNF receptor-deficient mice reveal divergent roles for p55 and p75 in several models of inflammation. J Immunol 1998; 160:943-52.
47. Penuel E, Akita RW, Sliwkowski MX. Identification of a region within the ErbB2/HER2 intracellular domain that is necessary for ligand-independent association. J Biol Chem 2002; 277: 28468-73.
48. Cui X, Hawari F, Alsaaty S et al. Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J Clin Invest 2002; 110:515-26.
49. Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in umour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology 2003; 42:235-9.